Variant report

Variant	rs12091686
Chromosome Location	chr1:180714725-180714726
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 220 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:218)

rs_ID	r²[population]
rs10399718	0.81[AFR][1000 genomes]
rs10399760	0.82[AFR][1000 genomes]
rs10399804	0.88[AFR][1000 genomes]
rs10399869	0.85[AFR][1000 genomes]
rs10914062	0.90[AFR][1000 genomes]
rs10914063	0.81[AFR][1000 genomes]
rs10914064	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs10914065	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs10914068	0.88[AFR][1000 genomes]
rs10914069	0.88[AFR][1000 genomes]
rs10914070	0.88[AFR][1000 genomes]
rs10914071	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs10914072	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs10914073	0.88[AFR][1000 genomes]
rs10914081	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs10914082	0.88[AFR][1000 genomes]
rs10914085	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs10914087	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs10914088	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs10914090	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs10914091	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs10914093	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs10914098	0.85[AFR][1000 genomes]
rs10914101	0.85[AFR][1000 genomes]
rs10914102	0.85[AFR][1000 genomes]
rs10914103	0.85[AFR][1000 genomes]
rs10914105	0.85[AFR][1000 genomes]
rs10914106	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs10914119	1.00[YRI][hapmap]
rs10914120	1.00[YRI][hapmap]
rs10914125	0.81[YRI][hapmap]
rs11484582	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs11484677	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs11487433	0.90[AFR][1000 genomes]
rs12058064	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs12058106	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs12059242	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs12059644	0.93[YRI][hapmap];0.83[AFR][1000 genomes]
rs12059678	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs12059686	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs12060123	0.88[AFR][1000 genomes]
rs12063354	0.88[AFR][1000 genomes]
rs12063893	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs12065537	0.85[AFR][1000 genomes]
rs12066418	0.85[AFR][1000 genomes]
rs12066422	0.91[YRI][hapmap];0.85[AFR][1000 genomes]
rs12067061	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs12067934	1.00[YRI][hapmap]
rs12068624	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs12068720	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs12069405	0.80[AFR][1000 genomes]
rs12069760	1.00[YRI][hapmap]
rs12070064	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs12070161	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs12070595	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs12071498	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs12073086	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs12073140	0.89[YRI][hapmap];0.85[AFR][1000 genomes]
rs12075235	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs12075809	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs12076634	0.85[AFR][1000 genomes]
rs12076888	0.94[YRI][hapmap]
rs12077123	0.81[AFR][1000 genomes]
rs12077610	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs12078050	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs12078652	1.00[YRI][hapmap]
rs12079208	1.00[YRI][hapmap]
rs12079923	0.85[AFR][1000 genomes]
rs12079983	0.94[YRI][hapmap]
rs12080210	0.85[AFR][1000 genomes]
rs12080611	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs12080816	0.88[AFR][1000 genomes]
rs12080899	0.85[AFR][1000 genomes]
rs12081201	1.00[YRI][hapmap]
rs12081764	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs12081846	0.88[AFR][1000 genomes]
rs12082250	1.00[YRI][hapmap]
rs12082289	1.00[YRI][hapmap]
rs12082519	0.90[AFR][1000 genomes]
rs12082726	0.88[AFR][1000 genomes]
rs12084318	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs12084517	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs12084841	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs12086487	1.00[YRI][hapmap]
rs12086559	0.83[YRI][hapmap]
rs12087173	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs12087411	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs12087562	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs12087806	0.90[AFR][1000 genomes]
rs12088419	1.00[YRI][hapmap]
rs12088425	1.00[YRI][hapmap]
rs12088430	1.00[YRI][hapmap]
rs12088431	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs12088485	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs12088750	0.88[AFR][1000 genomes]
rs12088908	0.88[AFR][1000 genomes]
rs12089155	0.90[AFR][1000 genomes]
rs12089305	1.00[YRI][hapmap]
rs12089469	1.00[YRI][hapmap]
rs12090165	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs12090251	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs12090937	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs12092161	1.00[YRI][hapmap]
rs12092463	0.94[YRI][hapmap]
rs12092594	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs12092920	0.83[YRI][hapmap]
rs12093445	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs12093826	1.00[YRI][hapmap]
rs12094326	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs12095486	0.81[YRI][hapmap]
rs12095684	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs12096475	0.81[YRI][hapmap]
rs12097111	0.85[AFR][1000 genomes]
rs12097114	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs12097831	0.85[AFR][1000 genomes]
rs28396858	0.85[AFR][1000 genomes]
rs28772709	0.88[AFR][1000 genomes]
rs28860229	0.85[AFR][1000 genomes]
rs57032990	0.88[AFR][1000 genomes]
rs57514172	0.85[AFR][1000 genomes]
rs58365677	0.85[AFR][1000 genomes]
rs58414267	0.82[AFR][1000 genomes]
rs58845755	0.80[AFR][1000 genomes]
rs58925572	0.88[AFR][1000 genomes]
rs59013965	0.86[AFR][1000 genomes]
rs59084656	0.90[AFR][1000 genomes]
rs59197802	0.88[AFR][1000 genomes]
rs59543576	0.85[AFR][1000 genomes]
rs59741364	0.85[AFR][1000 genomes]
rs59929457	0.85[AFR][1000 genomes]
rs60159602	0.85[AFR][1000 genomes]
rs60396352	0.88[AFR][1000 genomes]
rs60653579	0.90[AFR][1000 genomes]
rs61530504	0.90[AFR][1000 genomes]
rs61742073	0.80[AFR][1000 genomes]
rs6425649	0.89[YRI][hapmap];0.90[AFR][1000 genomes]
rs6425650	0.90[AFR][1000 genomes]
rs6425653	0.85[AFR][1000 genomes]
rs6657287	0.85[AFR][1000 genomes]
rs6659121	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs6667050	0.83[AFR][1000 genomes]
rs6668077	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs6668578	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs6671456	0.88[AFR][1000 genomes]
rs6671987	0.88[AFR][1000 genomes]
rs6672886	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs6672994	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs6675189	1.00[YRI][hapmap]
rs6675596	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs6676373	0.89[YRI][hapmap]
rs6679698	0.85[AFR][1000 genomes]
rs6681878	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs6682446	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs6682537	0.94[YRI][hapmap];0.80[AFR][1000 genomes]
rs6686781	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs6686881	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs6687073	0.80[AFR][1000 genomes]
rs6691204	0.83[YRI][hapmap]
rs6692867	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs6693045	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs6693245	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs6694620	0.83[AFR][1000 genomes]
rs6697358	0.85[AFR][1000 genomes]
rs6698724	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs73034723	0.85[AFR][1000 genomes]
rs73034725	0.85[AFR][1000 genomes]
rs73034733	0.83[AFR][1000 genomes]
rs73034738	0.83[AFR][1000 genomes]
rs73034820	0.85[AFR][1000 genomes]
rs73034824	0.85[AFR][1000 genomes]
rs73034844	0.88[AFR][1000 genomes]
rs73034846	0.88[AFR][1000 genomes]
rs73034850	0.88[AFR][1000 genomes]
rs73034852	0.82[AFR][1000 genomes]
rs73034855	0.88[AFR][1000 genomes]
rs73034864	0.88[AFR][1000 genomes]
rs73034870	0.88[AFR][1000 genomes]
rs73034874	0.88[AFR][1000 genomes]
rs73034877	0.88[AFR][1000 genomes]
rs73034884	0.90[AFR][1000 genomes]
rs73034888	0.90[AFR][1000 genomes]
rs73034894	0.88[AFR][1000 genomes]
rs73036516	0.90[AFR][1000 genomes]
rs73036523	0.88[AFR][1000 genomes]
rs73036537	0.83[AFR][1000 genomes]
rs73036574	0.85[AFR][1000 genomes]
rs73036576	0.85[AFR][1000 genomes]
rs73040975	0.85[AFR][1000 genomes]
rs73042705	0.85[AFR][1000 genomes]
rs73042707	0.85[AFR][1000 genomes]
rs73042714	0.85[AFR][1000 genomes]
rs73044538	0.80[AFR][1000 genomes]
rs73044549	0.80[AFR][1000 genomes]
rs73049489	0.90[AFR][1000 genomes]
rs73051221	0.90[AFR][1000 genomes]
rs73051228	0.86[AFR][1000 genomes]
rs73051230	0.88[AFR][1000 genomes]
rs73051245	0.88[AFR][1000 genomes]
rs73051257	0.88[AFR][1000 genomes]
rs7512042	0.94[YRI][hapmap];0.84[AFR][1000 genomes]
rs7513368	1.00[YRI][hapmap]
rs7517852	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs7522212	1.00[YRI][hapmap]
rs7522604	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs7525801	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs7526917	0.87[AFR][1000 genomes]
rs7527018	0.90[AFR][1000 genomes]
rs7527074	0.93[YRI][hapmap];0.85[AFR][1000 genomes]
rs7531674	0.85[AFR][1000 genomes]
rs7533479	0.93[YRI][hapmap];0.85[AFR][1000 genomes]
rs7533512	0.88[AFR][1000 genomes]
rs7542521	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs7545150	1.00[YRI][hapmap]
rs7549787	1.00[YRI][hapmap]
rs7550955	0.90[AFR][1000 genomes]
rs9730482	0.80[AFR][1000 genomes]
rs9919230	0.85[AFR][1000 genomes]
rs9919245	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
2	nsv872578	chr1:180510771-180842344	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180708400-180722400	Weak transcription	Aorta	Aorta
2	chr1:180710000-180717200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr1:180711400-180721200	Weak transcription	Osteobl	bone
4	chr1:180712600-180715000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
5	chr1:180713000-180814200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr1:180713200-180714800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
7	chr1:180713400-180716200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr1:180713400-180742200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:180713800-180714800	ZNF genes & repeats	Primary B cells from cord blood	blood
10	chr1:180714200-180715000	ZNF genes & repeats	Primary T cells from cord blood	blood
11	chr1:180714400-180715000	Enhancers	Right Ventricle	heart
12	chr1:180714600-180715000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood

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